chr12-98648774-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181861.2(APAF1):c.287C>T(p.Ser96Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000384 in 1,613,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181861.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251080Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135704
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461730Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 727150
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.287C>T (p.S96F) alteration is located in exon 3 (coding exon 2) of the APAF1 gene. This alteration results from a C to T substitution at nucleotide position 287, causing the serine (S) at amino acid position 96 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at